(Q34055765)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24424125%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

title

CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24424125%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

main subject

cognitive dysfunction

1 reference

based on heuristic

inferred from title

author

Claudia Soler-Alfonso

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24424125%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

8

James R Lupski

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24424125%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

9

Pawel Stankiewicz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24424125%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

5

Patricia I Bader

1 reference

5 March 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24424125%20AND%20SRC:MED&resulttype=core&format=json

10

Sau Wai Cheung

1 reference

5 March 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24424125%20AND%20SRC:MED&resulttype=core&format=json

Claudia M B Carvalho

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24424125%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Jun Ge

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24424125%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Erin K Roney

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24424125%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Katarzyna E Kolodziejska

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24424125%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Rachel M Miller

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24424125%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Weimin Bi

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24424125%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Christian P Schaaf

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24424125%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

publication date

15 January 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24424125%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

5 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24424125%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

volume

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24424125%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24424125%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

page(s)

1071-1076

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24424125%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ejhg.2013.302

5 March 2020

exact match

0 references

cites work

Inverted low-copy repeats and genome instability--a genome-wide analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135413

Mechanisms for recurrent and complex human genomic rearrangements

5 July 2018

1 reference

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Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135413

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135413

A copy number variation morbidity map of developmental delay

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135413

Copy number and SNP arrays in clinical diagnostics

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135413

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135413

Neurogenetics: advancing the "next-generation" of brain research

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135413

Detection of clinically relevant exonic copy-number changes by array CGH.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135413

Axonal α7 nicotinic ACh receptors modulate presynaptic NMDA receptor expression and structural plasticity of glutamatergic presynaptic boutons

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135413

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135413

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135413

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135413

Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135413

Mechanisms of change in gene copy number

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135413

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135413

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135413

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135413

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135413

Increased LIS1 expression affects human and mouse brain development

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135413

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135413

Microduplication and triplication of 22q11.2: a highly variable syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135413

The brain alpha7 nicotinic receptor may be an important therapeutic target for the treatment of Alzheimer's disease: studies with DMXBA (GTS-21).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135413

Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems.

5 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.302

A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.302

17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.302

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.302

Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.302

Brain copy number variants and neuropsychiatric traits.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.302

Revisiting Bleuler: relationship between autism and schizophrenia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.302

Overexpression of α3/α5/β4 nicotinic receptor subunits modifies impulsive-like behavior.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.302

Intrachromosomal triplications: molecular cytogenetic and clinical studies

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24424125

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2013.302

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24424125%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24424125%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24424125%20AND%20SRC:MED&resulttype=core&format=json